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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 2-73730025-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=73730025&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 73730025,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001330386.2",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.446A>G",
"hgvs_p": "p.Tyr149Cys",
"transcript": "NM_016058.5",
"protein_id": "NP_057142.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 175,
"cds_start": 446,
"cds_end": null,
"cds_length": 528,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 664,
"mane_select": "ENST00000272424.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016058.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.446A>G",
"hgvs_p": "p.Tyr149Cys",
"transcript": "ENST00000272424.11",
"protein_id": "ENSP00000272424.5",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 175,
"cds_start": 446,
"cds_end": null,
"cds_length": 528,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 664,
"mane_select": "NM_016058.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000272424.11"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.563A>G",
"hgvs_p": "p.Tyr188Cys",
"transcript": "NM_001330386.2",
"protein_id": "NP_001317315.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 214,
"cds_start": 563,
"cds_end": null,
"cds_length": 645,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 781,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330386.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.563A>G",
"hgvs_p": "p.Tyr188Cys",
"transcript": "NM_001330387.2",
"protein_id": "NP_001317316.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 214,
"cds_start": 563,
"cds_end": null,
"cds_length": 645,
"cdna_start": 626,
"cdna_end": null,
"cdna_length": 778,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330387.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.563A>G",
"hgvs_p": "p.Tyr188Cys",
"transcript": "ENST00000318190.7",
"protein_id": "ENSP00000325398.7",
"transcript_support_level": 5,
"aa_start": 188,
"aa_end": null,
"aa_length": 214,
"cds_start": 563,
"cds_end": null,
"cds_length": 645,
"cdna_start": 684,
"cdna_end": null,
"cdna_length": 819,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318190.7"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.563A>G",
"hgvs_p": "p.Tyr188Cys",
"transcript": "ENST00000409716.6",
"protein_id": "ENSP00000386936.2",
"transcript_support_level": 5,
"aa_start": 188,
"aa_end": null,
"aa_length": 214,
"cds_start": 563,
"cds_end": null,
"cds_length": 645,
"cdna_start": 681,
"cdna_end": null,
"cdna_length": 816,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409716.6"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.563A>G",
"hgvs_p": "p.Tyr188Cys",
"transcript": "ENST00000904806.1",
"protein_id": "ENSP00000574865.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 214,
"cds_start": 563,
"cds_end": null,
"cds_length": 645,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 1500,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904806.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.563A>G",
"hgvs_p": "p.Tyr188Cys",
"transcript": "ENST00000904807.1",
"protein_id": "ENSP00000574866.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 214,
"cds_start": 563,
"cds_end": null,
"cds_length": 645,
"cdna_start": 809,
"cdna_end": null,
"cdna_length": 947,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904807.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.563A>G",
"hgvs_p": "p.Tyr188Cys",
"transcript": "ENST00000904810.1",
"protein_id": "ENSP00000574869.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 214,
"cds_start": 563,
"cds_end": null,
"cds_length": 645,
"cdna_start": 977,
"cdna_end": null,
"cdna_length": 1112,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904810.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.563A>G",
"hgvs_p": "p.Tyr188Cys",
"transcript": "ENST00000939338.1",
"protein_id": "ENSP00000609397.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 214,
"cds_start": 563,
"cds_end": null,
"cds_length": 645,
"cdna_start": 786,
"cdna_end": null,
"cdna_length": 998,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939338.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.563A>G",
"hgvs_p": "p.Tyr188Cys",
"transcript": "ENST00000939345.1",
"protein_id": "ENSP00000609404.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 214,
"cds_start": 563,
"cds_end": null,
"cds_length": 645,
"cdna_start": 649,
"cdna_end": null,
"cdna_length": 787,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939345.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.563A>G",
"hgvs_p": "p.Tyr188Cys",
"transcript": "ENST00000939352.1",
"protein_id": "ENSP00000609411.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 214,
"cds_start": 563,
"cds_end": null,
"cds_length": 645,
"cdna_start": 814,
"cdna_end": null,
"cdna_length": 966,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939352.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.563A>G",
"hgvs_p": "p.Tyr188Cys",
"transcript": "ENST00000939354.1",
"protein_id": "ENSP00000609413.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 214,
"cds_start": 563,
"cds_end": null,
"cds_length": 645,
"cdna_start": 826,
"cdna_end": null,
"cdna_length": 961,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939354.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.563A>G",
"hgvs_p": "p.Tyr188Cys",
"transcript": "ENST00000939361.1",
"protein_id": "ENSP00000609420.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 214,
"cds_start": 563,
"cds_end": null,
"cds_length": 645,
"cdna_start": 1268,
"cdna_end": null,
"cdna_length": 1401,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939361.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.512A>G",
"hgvs_p": "p.Tyr171Cys",
"transcript": "ENST00000939363.1",
"protein_id": "ENSP00000609422.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 197,
"cds_start": 512,
"cds_end": null,
"cds_length": 594,
"cdna_start": 531,
"cdna_end": null,
"cdna_length": 666,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939363.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.464A>G",
"hgvs_p": "p.Tyr155Cys",
"transcript": "ENST00000939344.1",
"protein_id": "ENSP00000609403.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 181,
"cds_start": 464,
"cds_end": null,
"cds_length": 546,
"cdna_start": 537,
"cdna_end": null,
"cdna_length": 689,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939344.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.464A>G",
"hgvs_p": "p.Tyr155Cys",
"transcript": "ENST00000939350.1",
"protein_id": "ENSP00000609409.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 181,
"cds_start": 464,
"cds_end": null,
"cds_length": 546,
"cdna_start": 527,
"cdna_end": null,
"cdna_length": 662,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939350.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.446A>G",
"hgvs_p": "p.Tyr149Cys",
"transcript": "NM_001330388.2",
"protein_id": "NP_001317317.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 175,
"cds_start": 446,
"cds_end": null,
"cds_length": 528,
"cdna_start": 654,
"cdna_end": null,
"cdna_length": 806,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330388.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.446A>G",
"hgvs_p": "p.Tyr149Cys",
"transcript": "NM_001330389.2",
"protein_id": "NP_001317318.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 175,
"cds_start": 446,
"cds_end": null,
"cds_length": 528,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 661,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330389.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.446A>G",
"hgvs_p": "p.Tyr149Cys",
"transcript": "ENST00000904805.1",
"protein_id": "ENSP00000574864.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 175,
"cds_start": 446,
"cds_end": null,
"cds_length": 528,
"cdna_start": 649,
"cdna_end": null,
"cdna_length": 785,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904805.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.446A>G",
"hgvs_p": "p.Tyr149Cys",
"transcript": "ENST00000904808.1",
"protein_id": "ENSP00000574867.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 175,
"cds_start": 446,
"cds_end": null,
"cds_length": 528,
"cdna_start": 1235,
"cdna_end": null,
"cdna_length": 1370,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904808.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.446A>G",
"hgvs_p": "p.Tyr149Cys",
"transcript": "ENST00000904809.1",
"protein_id": "ENSP00000574868.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 175,
"cds_start": 446,
"cds_end": null,
"cds_length": 528,
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{
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"verdict": "Likely_pathogenic",
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],
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"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Galloway-Mowat syndrome 5",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}